A primary immunodeficiency occurs when part of the immune system is malfunctioning or missing. As discussed by the National Institutes of Health, there are more than 70 kinds of immunodeficiency diseases and they range in severity from mild to life-threatening in nature. The immune system is made up of multiple components that act together to fight infection against bacteria, viruses, fungi and parasites. When one component is not working properly, the patient is more susceptible to infection. For this reason, many of the signs of primary immunodeficiency are related to infection.
Upper Respiratory Infections
Children with a primary immunodeficiency often have difficulty with recurrent ear infections, colds and coughs. While a typical child can have one to three ear infections per year and frequent colds, a child with an immunodeficiency often seems as though they are never well and may have multiple infections at a time. Sinusitis, bronchitis and ear infections occur more frequently after colds than they do in other children.
Pneumonia
Recurrent pneumonias that require antibiotics or hospitalization are a common sign of primary immunodeficiency. Pneumonia is an infection of the airways of the lungs and inflammation of these airways makes it difficult for the patient to breathe. The patient may be short of breath and complain of a cough and fever. While a typical child may develop pneumonia, recurrent pneumonia is a sign of an abnormality.
Meningitis
Meningitis is also more common in patients with immune system problems. This disorder presents as fever and severe headache. A child with meningitis may show signs of lethargy and can develop confusion, seizures and even death if not treated promptly with antibiotics. Meningitis is a less common sign of primary immunodeficiency, but occurs frequently in certain subsets of this disorder.
Bone/Skin Infections
Osteomyelitis and cellulitis are also potential signs of primary immunodeficiency. Osteomyelitis is an infection of the bone which is uncommon in patients with a fully functioning immune system. Cellulitis is an infection of the skin and can occur in all patients but is more common in patients with an immunodeficiency. These infections are often harder to treat in a patient with a primary immunodeficiency.
Blood Infections
Blood infection, or bacteremia, is a common sign of primary immunodeficiency. Blood infections occur when an infection spreads through the blood, affecting all parts of the body. In patients with a functioning immune system, the immune system can generally fight an infection where it occurs and does not allow the bacteria to flourish in the bloodstream. Bacteremia requires hospitalization and treatment with antibiotics.
Opportunistic Infections
Patients with a primary immunodeficiency may develop infections in common areas, such as the lungs but with germs that a healthy immune system fights off. As discussed by the National Institutes of Health, these germs can take hold in the weakened immune system and produce an unusual infection. An opportunistic infection is often the sign that leads to the diagnosis of primary immunodeficiency.
Autoimmune Disorders
Autoimmune disorders are more likely to affect patients with primary immunodeficiency. According to the NIH, the faulty immune system attacks normal cells and tissues, resulting in diseases such as diabetes, rheumatoid arthritis or lupus.
Failure to Thrive
Failure to thrive or difficulty with weight gain and growth is a sign of primary immunodeficiency in children. This is likely because the child is expending so much energy fighting infections that he is not able to consume enough to keep up with growth. These children may also have difficulty meeting developmental milestones.
Family History of Immunodeficiency
Primary immunodeficiency is a genetic disorder, which means that it stems from the genes that the parents pass to the child. While both parents are often healthy, siblings or other members of the family may be affected by an immunodeficiency.
Frequent Hospitalizations
Frequent infections that are severe enough to require intravenous antibiotics are the hallmark signs of a primary immunodeficiency. While it can be difficult to ascertain whether frequent infections are a normal part of childhood versus a sign of a primary immunodeficiency, frequent infections that require hospitalization are unusual in a healthy immune system.
